catalog number :
MBS281672
products type :
ELISA Kit
products full name :
Bovine 11-cis retinol dehydrogenase (RDH5) ELISA Kit
products short name :
11-cis retinol dehydrogenase
other names :
11-cis retinol dehydrogenase; 11-cis retinol dehydrogenase; 11-cis retinol dehydrogenase; 11-cis RDH; 11-cis RoDH; retinol dehydrogenase 1; 9-cis retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; retinol dehydrogenase 5 (11-cis and 9-cis); short chain dehydrogenase/reductase family 9C, member 5; retinol dehydrogenase 5 (11-cis/9-cis); 9-cis retinol dehydrogenase; 9cRDH
products gene name :
RDH5
other gene names :
RDH5; RDH5; RDH1; 9cRDH; SDR9C5; HSD17B9; RDH1; 11-cis RDH; 11-cis RoDH; 9cRDH
uniprot entry name :
RDH1_HUMAN
storage stability :
Store at 2-8 degree C.
ncbi acc num :
AAC50725.1
ncbi mol weight :
34,979 Da
ncbi pathways :
Disease Pathway (530764); Diseases Associated With Visual Transduction Pathway (771581); Retinol Metabolism Pathway (83020); Retinol Metabolism Pathway (406); Signal Transduction Pathway (477114); The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway (771585); Visual Phototransduction Pathway (771584); Visual Signal Transduction: Cones Pathway (137926); Visual Signal Transduction: Rods Pathway (138074); Vitamin A And Carotenoid Metabolism Pathway (920901)
ncbi summary :
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
uniprot summary :
RDH5: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. Defects in RDH5 are a cause of retinitis punctata albescens (RPA); also known as fundus albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Protein type: Endoplasmic reticulum; Oxidoreductase; Cofactor and Vitamin Metabolism - retinol; EC 1.1.1.315. Chromosomal Location of Human Ortholog: 12q13-q14. Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen. Molecular Function: retinol dehydrogenase activity. Biological Process: phototransduction, visible light; visual perception; retinol metabolic process; retinoid metabolic process. Disease: Fundus Albipunctatus